Battelino T - Search Results

1

Universal screening for familial hypercholesterolemia in 2 populations.

Sustar U, Kordonouri O, Mlinaric M, Kovac J, Arens S, Sedej K, Jenko Bizjan B, Trebusak Podkrajsek K, Danne T, Battelino T, Groselj U. Sustar U, et al. Among authors: battelino t. Genet Med. 2022 Oct;24(10):2103-2111. doi: 10.1016/j.gim.2022.06.010. Epub 2022 Aug 1. Genet Med. 2022. PMID: 35913489 Free article.

2

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

Vesel S, Stopar-Obreza M, Trebusak-Podkrajsek K, Jazbec J, Podnar T, Battelino T. Vesel S, et al. Among authors: battelino t. Eur J Hum Genet. 2003 Jan;11(1):97-101. doi: 10.1038/sj.ejhg.5200926. Eur J Hum Genet. 2003. PMID: 12529714

3

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

Avbelj M, Hocevar M, Trebusak-Podkrajsek K, Krzisnik C, Battelino T. Avbelj M, et al. Among authors: battelino t. Melanoma Res. 2003 Dec;13(6):567-70. doi: 10.1097/01.cmr.0000056289.15046.c0. Melanoma Res. 2003. PMID: 14646619

4

Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.

Pavlic A, Battelino T, Trebusak Podkrajsek K, Ovsenik M. Pavlic A, et al. Among authors: battelino t. Eur J Orthod. 2011 Jun;33(3):325-31. doi: 10.1093/ejo/cjq089. Epub 2010 Nov 10. Eur J Orthod. 2011. PMID: 21068190

5

GPR143 gene mutation analysis in pediatric patients with albinism.

Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T. Trebušak Podkrajšek K, et al. Among authors: battelino t. Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486324

6

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T. Groselj U, et al. Among authors: battelino t. Mol Genet Metab. 2012 Jun;106(2):142-8. doi: 10.1016/j.ymgme.2012.03.015. Epub 2012 Apr 1. Mol Genet Metab. 2012. PMID: 22513348

7

Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.

Tansek MZ, Groselj U, Murko S, Kobe H, Lampret BR, Battelino T. Tansek MZ, et al. Among authors: battelino t. Mol Genet Metab. 2012 Sep;107(1-2):37-42. doi: 10.1016/j.ymgme.2012.07.010. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22917871

8

Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.

Kosem R, Debeljak M, Repič Lampret B, Kansky A, Battelino T, Trebušak Podkrajšek K. Kosem R, et al. Among authors: battelino t. Dermatology. 2012;225(3):193-203. doi: 10.1159/000342509. Epub 2012 Oct 27. Dermatology. 2012. PMID: 23108224

9

The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.

Groselj U, Tansek MZ, Podkrajsek KT, Battelino T. Groselj U, et al. Among authors: battelino t. J Inherit Metab Dis. 2013 Jan;36(1):157. doi: 10.1007/s10545-012-9562-2. Epub 2012 Nov 16. J Inherit Metab Dis. 2013. PMID: 23160875 No abstract available.

10

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Hovnik T, Bratanič N, Podkrajšek KT, Kovač J, Paro D, Podnar T, Bratina N, Battelino T. Hovnik T, et al. Among authors: battelino t. Eur J Pediatr. 2013 Aug;172(8):1125-9. doi: 10.1007/s00431-012-1901-7. Epub 2012 Dec 11. Eur J Pediatr. 2013. PMID: 23229189

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